Article
Southeast Asian AE1 associated renal tubular acidosis: cation leak is a class effect.
Biochemical and biophysical research communications - 15 May 2009
Walsh Stephen, Borgese Franck, Gabillat Nicole, Guizouarn Helene
Abstract excerpt
Anion Exchanger 1 (AE1) is present in the erythrocyte and also in the alpha-intercalated cell; different mutations can cause either red cell disease or distal renal tubular acidosis (dRTA). Recently, we described a cation leak property in four dRTA-causing AE1 mutants, three autosomal dominant (AD) European mutants, one autosomal recessive (AR) from Southeast Asia, G701D. G701D had a very large leak property and...
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